RIPPLY2 — 99 ClinVar variants
All ClinVar germline RIPPLY2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely pathogenic · 2 Conflicting · 6 Benign · 1 Benign/Likely benign · 36 Likely benign · 53 Uncertain significance
Full RIPPLY2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RIPPLY2 p.Ala14Ser Uncertain significance Multiple submitters
- RIPPLY2 p.Ala14Thr Uncertain significance Multiple submitters
- RIPPLY2 p.Ala34Thr Uncertain significance Multiple submitters
- RIPPLY2 p.Gly9Cys Uncertain significance Multiple submitters
- RIPPLY2 p.Met59Thr Uncertain significance Multiple submitters
- RIPPLY2 p.Ala16Pro Uncertain significance Single submitter
- RIPPLY2 p.Ala19Val Uncertain significance Single submitter
- RIPPLY2 p.Ala27Val Uncertain significance Single submitter
- RIPPLY2 p.Ala34Val Uncertain significance Single submitter
- RIPPLY2 p.Ala7Thr Uncertain significance Single submitter
- RIPPLY2 p.Arg25Gln Uncertain significance Single submitter
- RIPPLY2 p.Asp123Tyr Uncertain significance Single submitter
- RIPPLY2 p.Asp21Asn Uncertain significance Single submitter
- RIPPLY2 p.Asp42Asn Uncertain significance Single submitter
- RIPPLY2 p.Cys17Ser Uncertain significance Single submitter
- RIPPLY2 p.Glu49Lys Uncertain significance Single submitter
- RIPPLY2 p.Glu8Asp Uncertain significance Single submitter
- RIPPLY2 p.Gly22Ser Uncertain significance Single submitter
- RIPPLY2 p.Gly35Ser Uncertain significance Single submitter
- RIPPLY2 p.Gly44Ala Uncertain significance Single submitter
- RIPPLY2 p.Gly44Glu Uncertain significance Single submitter
- RIPPLY2 p.Gly62Asp Uncertain significance Single submitter
- RIPPLY2 p.Gly6Asp Uncertain significance Single submitter
- RIPPLY2 p.Gly9Arg Uncertain significance Single submitter
- RIPPLY2 p.His77Tyr Uncertain significance Single submitter
- RIPPLY2 p.Ile109Val Uncertain significance Single submitter
- RIPPLY2 p.Lys101Arg Uncertain significance Single submitter
- RIPPLY2 p.Lys46Arg Uncertain significance Single submitter
- RIPPLY2 p.Pro23Ser Uncertain significance Single submitter
- RIPPLY2 p.Pro52Arg Uncertain significance Single submitter
- RIPPLY2 p.Pro84Leu Uncertain significance Single submitter
- RIPPLY2 p.Pro84Ser Uncertain significance Single submitter
- RIPPLY2 p.Thr51Arg Uncertain significance Single submitter
- RIPPLY2 p.Tyr112Asp Uncertain significance Single submitter
- RIPPLY2 p.Tyr73His Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- RIPPLY2 p.Glu118Lys Uncertain significance Multiple submitters
- RIPPLY2 p.Asp114Gly Uncertain significance Single submitter
- RIPPLY2 p.Asp116His Uncertain significance Single submitter
- RIPPLY2 p.Ile105Phe Uncertain significance Single submitter
- RIPPLY2 p.Pro39Ala Uncertain significance Single submitter
- RIPPLY2 p.Pro39His Uncertain significance Single submitter
- RIPPLY2 p.Trp40Ser Uncertain significance Single submitter
All RIPPLY2 variants
Likely pathogenic 1
- p.Leu100fs Single submitter Klippel-Feil syndrome 2, autosomal recessive
Conflicting classifications of pathogenicity 2
- c.240-4T>G Single submitter spondylocostal dysostosis 2, autosomal recessive
- p.Arg80Ter Single submitter spondylocostal dysostosis 6, autosomal recessive
Benign 6
- p.Ala4= Multiple submitters spondylocostal dysostosis 6, autosomal recessive
- c.239+195G>A Single submitter
- c.239+19C>T Single submitter
- c.239+263G>A Single submitter
- c.95+51T>G Single submitter
- c.-51T>C Single submitter
Benign/Likely benign 1
- p.Glu50= Multiple submitters
Likely benign 36
- c.175-19C>T Multiple submitters
- c.174+14G>A Single submitter
- c.174+17T>A Single submitter
- c.174+18C>T Single submitter
- c.174+9G>A Single submitter
- c.175-13C>T Single submitter
- c.175-20T>A Single submitter
- c.239+19C>G Single submitter
- c.239+9C>T Single submitter
- c.240-13C>T Single submitter
- c.240-20A>G Single submitter
- c.95+12C>A Single submitter
- c.95+12C>G Single submitter
- c.95+18G>A Single submitter
- c.95+19C>T Single submitter
- c.95+20T>C Single submitter
- c.96-12C>T Single submitter
- c.96-18T>C Single submitter
- p.Ala14= Single submitter
- p.Ala15= Single submitter
- p.Ala27= Single submitter
- p.Ala29= Single submitter
- p.Ala43= Single submitter
- p.Arg25= Single submitter
- p.Asn3= Single submitter
- p.Cys126= Single submitter
- p.Glu11= Single submitter
- p.Gly22Arg Single submitter
- p.Ser117= Single submitter
- p.Ser12= Single submitter
- p.Thr20= Single submitter
- p.Thr51= Single submitter
- p.Thr51Ala Single submitter
- p.Thr66= Single submitter
- p.Tyr89= Single submitter
- p.Tyr93= Single submitter
Uncertain significance 53
- p.Ala14Ser Multiple submitters ⚠
- p.Ala14Thr Multiple submitters ⚠
- p.Ala34Thr Multiple submitters ⚠
- p.Glu118Lys Multiple submitters ⚠
- p.Gly9Cys Multiple submitters ⚠
- p.Met59Thr Multiple submitters ⚠
- c.95+2T>A Single submitter
- c.95+2T>G Single submitter
- p.Ala16Pro Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala34Val Single submitter ⚠
- p.Ala7Thr Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg26His Single submitter
- p.Asp114Gly Single submitter ⚠
- p.Asp116His Single submitter ⚠
- p.Asp123Tyr Single submitter ⚠
- p.Asp21Asn Single submitter ⚠
- p.Asp42Asn Single submitter ⚠
- p.Cys17Ser Single submitter ⚠
- p.Gln94= Single submitter
- p.Gln94Ter Single submitter
- p.Glu49Lys Single submitter ⚠
- p.Glu50del Single submitter
- p.Glu8Asp Single submitter ⚠
- p.Gly22Ser Single submitter ⚠
- p.Gly35Ser Single submitter ⚠
- p.Gly44Ala Single submitter ⚠
- p.Gly44Glu Single submitter ⚠
- p.Gly62Asp Single submitter ⚠
- p.Gly6Asp Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His77Tyr Single submitter ⚠
- p.Ile105Phe Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Lys101Arg Single submitter ⚠
- p.Lys46Arg Single submitter ⚠
- p.Pro23Ser Single submitter ⚠
- p.Pro39Ala Single submitter ⚠
- p.Pro39His Single submitter ⚠
- p.Pro52Arg Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Pro84Ser Single submitter ⚠
- p.Ser12fs Single submitter
- p.Ter129Gln Single submitter
- p.Ter129Tyr Single submitter
- p.Thr51Arg Single submitter ⚠
- p.Trp40Ser Single submitter ⚠
- p.Tyr112Asp Single submitter ⚠
- p.Tyr73His Single submitter ⚠
- p.Val41fs Single submitter
- c.240-1G>C No assertion criteria